Neuro-Otological and Peripheral Nerve Involvement in Fabry Disease

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Neuro-Otological and Peripheral Nerve Involvement in Fabry Disease

Fabry disease (FD) is an X-linked lysosomal storage disease, with multisystemic glycosphingolipids deposits. Neuro-otological involvement leading to hearing loss and vestibular dysfunctions has been described, but there is limited information about the frequency, site of lesion, or the relationship with peripheral neuropathy. The aim was to evaluate the presence of auditory and vestibular sympt...

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Optic nerve involvement in neuro-Behcet's disease.

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Electronystagmographic criteria in neuro-otological diagnosis. 1. Peripheral lesions.

Direct current electronystagmographic recordings of spontaneous nystagmus, in the light, in darkness, and with eye closure were carried out on 34 patients with peripheral lesions of the vestibular system with a view to determining their specificity. In 60% of patients the responses were characterised by an enhancement of the nystagmus both with eye closure and in darkness. The remainder exhibit...

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Motor involvement in Fabry disease

We have read with great interest the article published by Wise and colleagues on the last issue of Molecular Genetics and Metabolism Reports [1]. The Authors performed a survey study investigating the prevalence of Parkinson Disease (PD) in individuals affected by Fabry Disease (FD), and found that 2 patients out of 90 (2.2%) were diagnosed with PD. Although considering all the limitations of t...

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Renal involvement in Fabry disease.

Every cell in the human body has globotriaosylceramide accumulation (Gb3) in Fabry disease due to the mutation in gene of the enzyme α-galactosidase A. It is a disease linked to sex. The main clinical features are: cutaneous angiokeratomas; acroparestesias and early strokes; decreased sweating and heat intolerance; ocular changes; myocardial hypertrophy, arrhythmias; gastrointestinal disorders ...

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ژورنال

عنوان ژورنال: Audiology Research

سال: 2017

ISSN: 2039-4349

DOI: 10.4081/audiores.2017.176